Publicação
Hematologically important mutations: Shwachman–Diamond syndrome
| dc.contributor.author | Costa, Elísio | |
| dc.contributor.author | Santos, Rosário | |
| dc.date.accessioned | 2008-02-18T10:53:34Z | |
| dc.date.available | 2008-02-18T10:53:34Z | |
| dc.date.issued | 2008 | |
| dc.description.abstract | Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. The Shwachman–Bodian–Diamond syndrome (SBDS) gene was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. Over the last 4 years, a number of different mutations affecting the SBDS gene have been described. In this report, a summary of documented SDS associated mutations is provided. | en |
| dc.identifier.citation | Costa, Elísio; Santos, Rosário (2008). Hematologically important mutations: Shwachman–Diamond syndrome.Blood Cells, Molecules, and Diseases. ISSN 1079-9796. 40:2, p.183–184 | en |
| dc.identifier.doi | 10.1016/j.bcmd.2007.07.008 | |
| dc.identifier.issn | 1079-9796 | |
| dc.identifier.uri | http://hdl.handle.net/10198/488 | |
| dc.language.iso | eng | en |
| dc.publisher | Elsevier | en |
| dc.subject | SBDS | en |
| dc.subject | SBDSP | en |
| dc.subject | Shwachman-Diamond syndrome | en |
| dc.subject | Mutations | en |
| dc.title | Hematologically important mutations: Shwachman–Diamond syndrome | en |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| rcaap.rights | openAccess | |
| rcaap.type | article | en |